{"id":"W4389450056","doi":"10.1212/wnl.94.15_supplement.397","title":"A First Case of Noonan Syndrome SOS2 related with Leukodystrophy, Disseminated Neurofibromas and Polyneuropathy (397)","year":2020,"lang":"en","type":"article","venue":"Neurology","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier universitaire de Québec","funders":"","keywords":"Noonan syndrome; Costello syndrome; Medicine; Leukodystrophy; Polyneuropathy; Pathology; Dermatology; Internal medicine; Disease","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001818157,0.001584169,0.0006938325,0.001070971,0.001573365,0.0008089442,0.0007692717,0.003031218,0.003152497],"category_scores_gemma":[0.001702198,0.0005142044,0.0007609375,0.0004301108,0.0009881078,0.0006982337,0.001271,0.001125863,0.0008479378],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004920067,"about_ca_system_score_gemma":0.000528825,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001970939,"about_ca_topic_score_gemma":0.002501835,"domain_scores_codex":[0.9997503,0.00002532537,0.00002980238,0.00005990574,0.00003673521,0.00009797739],"domain_scores_gemma":[0.9991216,0.0002182061,0.0002019798,0.00006862612,0.00006323232,0.0003263078],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00005153129,0.00003983526,0.008880132,0.00002956248,0.000009432099,0.9860414,0.0002817362,0.00003738952,0.003196869,0.0001068121,0.0001382807,0.001186979],"study_design_scores_gemma":[0.000009507314,0.000155912,0.009169776,0.000006593907,0.0000123609,0.9885973,0.0001326027,0.00005292351,0.0008919625,0.0001124526,0.0008461965,0.0000123464],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917319,0.001245048,0.001112373,0.0006346686,0.0002551433,0.00005638212,0.0001807347,0.00006990026,0.004713824],"genre_scores_gemma":[0.9951885,0.0007650407,0.0007395488,0.0003864546,0.0003503687,0.00001795956,0.0001134461,0.00002641184,0.002412356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003152497,"threshold_uncertainty_score":0.01054615,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00480905719898779,"score_gpt":0.1920933577516542,"score_spread":0.1872843005526664,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}